Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00754:Klrc3'

11680

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klrc3

Ensembl Gene

ENSMUSG00000033027

Gene Name

killer cell lectin-like receptor subfamily C, member 3

Synonyms

NKG2E

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

IGL00754

Quality Score

Status

Chromosome

Chromosomal Location

129616027-129620300 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129618389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 131 (S131R)

Ref Sequence

ENSEMBL: ENSMUSP00000129830 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071149] [ENSMUST00000170148] [ENSMUST00000203189]

AlphaFold

Q9QXN7

Predicted Effect

probably damaging
Transcript: ENSMUST00000071149
AA Change: S139R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000071147
Gene: ENSMUSG00000033027
AA Change: S139R

Domain	Start	End	E-Value	Type
transmembrane domain	66	88	N/A	INTRINSIC
CLECT	105	216	1.96e-18	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000170148
AA Change: S131R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129830
Gene: ENSMUSG00000033027
AA Change: S131R

Domain	Start	End	E-Value	Type
transmembrane domain	66	88	N/A	INTRINSIC
CLECT	97	208	1.96e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000203189

SMART Domains

Protein: ENSMUSP00000144993
Gene: ENSMUSG00000033027

Domain	Start	End	E-Value	Type
transmembrane domain	66	88	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	G	A	10: 20,848,040 (GRCm39)	G483R	probably damaging	Het
Ano1	T	C	7: 144,150,968 (GRCm39)	I816V	probably damaging	Het
Aprt	T	C	8: 123,302,232 (GRCm39)	Q77R	probably benign	Het
Bcas3	T	A	11: 85,386,649 (GRCm39)		probably benign	Het
Casp8ap2	A	G	4: 32,641,036 (GRCm39)	M697V	probably benign	Het
Cgas	G	A	9: 78,342,770 (GRCm39)	P344L	probably damaging	Het
Chrnd	A	C	1: 87,123,506 (GRCm39)	E348A	probably benign	Het
Ctnnbl1	A	T	2: 157,661,461 (GRCm39)	S324C	possibly damaging	Het
Dgkb	C	A	12: 38,488,567 (GRCm39)	N644K	probably benign	Het
Dnajc13	A	T	9: 104,051,697 (GRCm39)	L1720*	probably null	Het
Ehbp1	A	G	11: 22,197,967 (GRCm39)		probably benign	Het
Eif1b	G	T	9: 120,323,686 (GRCm39)	C94F	probably benign	Het
Fmnl3	G	A	15: 99,220,551 (GRCm39)	T577I	probably damaging	Het
Gm28042	G	A	2: 119,860,837 (GRCm39)	G96R	probably damaging	Het
Hcrtr1	A	G	4: 130,031,026 (GRCm39)	V86A	probably damaging	Het
Mboat4	A	G	8: 34,591,708 (GRCm39)	T382A	probably benign	Het
Oosp1	A	T	19: 11,645,069 (GRCm39)	H198Q	possibly damaging	Het
Parp14	T	C	16: 35,659,741 (GRCm39)	D1627G	probably benign	Het
Pdcd11	T	A	19: 47,092,221 (GRCm39)	F406I	possibly damaging	Het
Ppara	T	C	15: 85,661,843 (GRCm39)	L28S	probably damaging	Het
Samd3	A	G	10: 26,120,425 (GRCm39)	T140A	probably benign	Het
Sf3b1	A	G	1: 55,026,645 (GRCm39)	F1255L	probably damaging	Het
Stard6	T	A	18: 70,616,559 (GRCm39)	S73T	probably benign	Het
Tnip2	T	C	5: 34,656,643 (GRCm39)	I221V	probably benign	Het
Ttn	A	G	2: 76,612,429 (GRCm39)	I8859T	possibly damaging	Het
Ube3b	T	C	5: 114,553,348 (GRCm39)	S907P	possibly damaging	Het
Utp25	G	T	1: 192,797,309 (GRCm39)	N514K	probably damaging	Het
Utrn	A	G	10: 12,539,236 (GRCm39)	V1927A	probably benign	Het
Zfp945	T	C	17: 23,070,931 (GRCm39)		probably benign	Het

Other mutations in Klrc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01311:Klrc3	APN	6	129,618,375 (GRCm39)	missense	probably damaging	1.00
IGL02634:Klrc3	APN	6	129,620,171 (GRCm39)	missense	probably damaging	0.99
IGL02806:Klrc3	APN	6	129,616,065 (GRCm39)	missense	possibly damaging	0.52
R1568:Klrc3	UTSW	6	129,616,510 (GRCm39)	missense	probably benign	0.01
R2132:Klrc3	UTSW	6	129,618,501 (GRCm39)	missense	probably benign
R2517:Klrc3	UTSW	6	129,616,520 (GRCm39)	missense	probably damaging	1.00
R3833:Klrc3	UTSW	6	129,620,181 (GRCm39)	missense	probably damaging	0.99
R4355:Klrc3	UTSW	6	129,616,125 (GRCm39)	missense	probably benign	0.09
R5085:Klrc3	UTSW	6	129,616,538 (GRCm39)	missense	probably damaging	0.99
R5247:Klrc3	UTSW	6	129,618,425 (GRCm39)	missense	probably damaging	1.00
R5426:Klrc3	UTSW	6	129,618,513 (GRCm39)	missense	probably benign	0.04
R7557:Klrc3	UTSW	6	129,616,107 (GRCm39)	missense	probably damaging	0.99
R9168:Klrc3	UTSW	6	129,616,142 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06